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Published on: May 13, 2019
Analysis of copy number variation using quantitative interspecies competitive PCR
Nigel M Williams1, Hywel Williams, Elisa Majounie
1Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK. williamsnm@cf.ac.uk
Nucleic Acids Research
|August 14, 2008
Summary
We developed a new method using chimpanzee DNA to accurately and affordably measure DNA copy number variants (CNVs). This technique simplifies genetic analysis for human diversity and disease susceptibility studies.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- Small DNA copy-number variants (CNVs) are significant contributors to human genetic diversity and disease susceptibility.
- Accurate, efficient, and cost-effective methods for measuring genomic CNVs in clinical settings are urgently needed.
Purpose of the Study:
- To develop and validate a novel, cost-effective method for quantifying DNA copy number variations.
- To demonstrate the utility of this method for genetic association studies.
Main Methods:
- Developed a competitive PCR-based assay using a single chimpanzee genome as a universal competitor.
- Eliminated the need for assay-specific competitive sequences, simplifying the process.
- Validated the method by detecting known mutations at the PARK2 locus and genotyping chromosome 22q11 deletions.
Main Results:
- The quantitative interspecies competitive PCR (qicPCR) method accurately determined DNA copy number.
- Successfully genotyped CNVs in PARK2 and chromosome 22q11 deletion cases.
- Demonstrated the method's potential for large-scale CNV analysis in multiplex assays.
Conclusions:
- qicPCR offers an efficient, accurate, and cost-effective approach for measuring DNA copy number polymorphisms.
- This method facilitates large-scale genetic studies investigating human variation and disease susceptibility.
- The use of a single reference sample significantly streamlines CNV genotyping in clinical cohorts.
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02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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